Datapoort Metadata Catalogus

CHD7

CHD7.org

Description

The CHD7 mutation database contains anonymised data on both published and unpublished CHD7 variations and phenotype. The CHD7 mutation database will be regularly updated with data from new publications and unpublished data. The database currently contains 554 pathogenic mutations in 895 patients, 93 unclassified variants in 98 patients, and 102 benign variants. Published data are available for 709 patients. Data from 364 patients are unpublished.

General Design

Type
Cohort study
Cohort type
Case only
Data collection type
Retrospective
Design
Cross-sectional
Design description
The database contains published and unpublished variants. Mutations are numbered according to GenBank Accession no. NM017780.2. Mutation nomenclature according to HGVS recommendations. Molgenis software is used..
Start/End data collection
2010 (ongoing)
Design papers
PID
https://doi.org/10.34760/65265e2c7c59b

Population

Number of participants
895
Number of participants with samples
0
Population age groups
All ages
Main medical condition
  • ORPHAcodes
Other inclusion criteria
CHD7 variant

Organisations

Lead organisations

Contributors

Available Data & Samples

Data categories

Medical records

Subpopulations

List of subpopulations for this resource
No results for current selection

Collection events

List of collection events defined for this resource
No results for current selection

Networks

Part of networks

Publications

A Novel Classification System to Predict the Pathogenic Effects of CHD7 Missense Variants in CHARGE Syndrome
Mutation Update on the CHD7 Gene Involved in CHARGE Syndrome

Access conditions

the database isonline open access. When using the data please cite "chd7.org" and Janssen et al (2012)
Data access conditions
general research use
Data access fee
true
Release type
Periodically

Created with MOLGENIS